Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001103843 | SCV001260656 | benign | ANO5-Related Muscle Diseases | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV001779116 | SCV002015308 | likely benign | not provided | 2021-05-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260137 | SCV002539279 | benign | Gnathodiaphyseal dysplasia | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260139 | SCV002539280 | benign | Miyoshi muscular dystrophy 3 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260138 | SCV002539281 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2L | 2021-12-05 | criteria provided, single submitter | clinical testing |